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Intellectual disability syndromic and non-syndromic

Gene: DUOXA2

Red List (low evidence)

DUOXA2 (dual oxidase maturation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000140274
EnsemblGeneIds (GRCh37): ENSG00000140274
OMIM: 612772, Gene2Phenotype
DUOXA2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID only if untreated; highly unlikely to present in this way in the Australian healthcare system context so not sure it should be on this panel.
Created: 1 Dec 2019, 7:06 a.m. | Last Modified: 1 Dec 2019, 7:06 a.m.
Panel Version: 0.124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thyroid dyshormonogenesis 5, MIM#274900

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Thyroid dyshormonogenesis 5, MIM#274900
OMIM
612772
Clinvar variants
Variants in DUOXA2
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa2 has been classified as Red List (Low Evidence).

1 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa2 has been classified as Amber List (Moderate Evidence).

1 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5, MIM#274900

1 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: duoxa2 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DUOXA2 was added gene: DUOXA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DUOXA2 was set to Unknown